Variant report

Variant	nsv526403
Chromosome Location	chr6:167614733-167620431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167615262..167616947-chr6:167733556..167735117,2	MCF-7	breast:

Extended variants
information (count: 315 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12665391	chr6:167614733-167614734	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559488394	chr6:167614734-167614735	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188734216	chr6:167614782-167614783	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559636693	chr6:167614811-167614812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541012985	chr6:167614845-167614846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529828505	chr6:167614899-167614900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9457285	chr6:167614977-167614978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370358197	chr6:167615006-167615007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2180713	chr6:167615010-167615011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs143098185	chr6:167615030-167615031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9459913	chr6:167615057-167615058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147458457	chr6:167615135-167615136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193187141	chr6:167615185-167615186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575102048	chr6:167615249-167615250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9457286	chr6:167615299-167615300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139233165	chr6:167615308-167615309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183328171	chr6:167615318-167615319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112405106	chr6:167615406-167615407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575290948	chr6:167615415-167615416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545918014	chr6:167615427-167615428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386708557	chr6:167615428-167615429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145603541	chr6:167615439-167615440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573141212	chr6:167615441-167615442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540652394	chr6:167615442-167615443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376066311	chr6:167615446-167615447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371797189	chr6:167615467-167615468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148476739	chr6:167615473-167615474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563477570	chr6:167615474-167615475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9459914	chr6:167615493-167615494	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552317202	chr6:167615502-167615503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187411298	chr6:167615504-167615505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9457287	chr6:167615508-167615509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546618719	chr6:167615528-167615529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144116697	chr6:167615572-167615573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535752521	chr6:167615606-167615607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557083154	chr6:167615611-167615612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569126555	chr6:167615612-167615613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567942367	chr6:167615679-167615680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539681593	chr6:167615716-167615717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191842869	chr6:167615732-167615733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9459915	chr6:167615739-167615740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113408283	chr6:167615740-167615741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9457288	chr6:167615743-167615744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs111910039	chr6:167615748-167615749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140955384	chr6:167615750-167615751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55787520	chr6:167615775-167615776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184014089	chr6:167615776-167615777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563438047	chr6:167615827-167615828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530709110	chr6:167615855-167615856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557505931	chr6:167615889-167615890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167610600-167615400	Weak transcription	Fetal Brain Male	brain
2	chr6:167612800-167615000	Strong transcription	Fetal Intestine Small	intestine
3	chr6:167613000-167616600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:167613800-167622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:167614000-167615400	Enhancers	HepG2	liver
6	chr6:167614400-167614800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:167614400-167623200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:167614800-167616400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:167615000-167616800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:167615400-167616400	Weak transcription	HepG2	liver
11	chr6:167615400-167617400	Enhancers	Fetal Brain Male	brain
12	chr6:167615800-167616200	Enhancers	Fetal Lung	lung
13	chr6:167615800-167628800	Weak transcription	Right Atrium	heart
14	chr6:167616400-167617000	Enhancers	HepG2	liver
15	chr6:167616400-167617400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:167616400-167617600	Enhancers	Rectal Smooth Muscle	rectum
17	chr6:167616600-167617200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:167616600-167617800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:167616600-167618400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:167616800-167617200	Enhancers	Stomach Smooth Muscle	stomach
21	chr6:167616800-167617400	Bivalent Enhancer	K562	blood
22	chr6:167616800-167617600	Enhancers	Fetal Intestine Small	intestine
23	chr6:167617000-167617400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:167617000-167617400	Enhancers	Liver	Liver
25	chr6:167617000-167617400	Enhancers	Fetal Heart	heart
26	chr6:167617000-167617400	Enhancers	Fetal Intestine Large	intestine
27	chr6:167617000-167617400	Enhancers	Lung	lung
28	chr6:167617000-167617400	Active TSS	A549	lung
29	chr6:167617000-167617400	Flanking Active TSS	HepG2	liver
30	chr6:167617000-167617400	Enhancers	NH-A	brain
31	chr6:167617200-167617400	Enhancers	Colon Smooth Muscle	Colon
32	chr6:167617200-167617400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr6:167617400-167618200	Weak transcription	NH-A	brain
34	chr6:167617400-167618600	Weak transcription	Fetal Brain Male	brain
35	chr6:167617400-167619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:167617400-167620800	Enhancers	HepG2	liver
37	chr6:167617400-167622400	Weak transcription	Fetal Intestine Large	intestine
38	chr6:167617600-167618000	Weak transcription	Fetal Intestine Small	intestine
39	chr6:167617600-167618000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:167617600-167618200	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:167618000-167619000	Enhancers	Fetal Intestine Small	intestine
42	chr6:167618000-167619000	Enhancers	Rectal Smooth Muscle	rectum
43	chr6:167618200-167618400	Enhancers	Colon Smooth Muscle	Colon
44	chr6:167618400-167618600	Enhancers	NH-A	brain
45	chr6:167618400-167619000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr6:167618400-167624400	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:167618600-167619200	Enhancers	Fetal Brain Male	brain
48	chr6:167619000-167619200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:167619000-167620200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr6:167619000-167622400	Weak transcription	Fetal Intestine Small	intestine

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